Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of spectrin. We studied a family in which the proband presented with a severe neonatal hemolytic anemia w...

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Bibliographic Details
Main Authors: Tse, W T, Lecomte, M C, Costa, F F, Garbarz, M, Feo, C, Boivin, P, Dhermy, D, Forget, B G
Format: Artigo
Language:Inglês
Published: 1990
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC296810/
https://ncbi.nlm.nih.gov/pubmed/1975598
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